Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000451188 [[44238202, 44238614], [44240802, 44241243], [44243139, 44247181]] [[44238479, 44238614], [44240802, 44241243], [44243139, 44244264]]
ENST00000438774 [[44238479, 44238614], [44240802, 44241243], [44274679, 44275243]] [[44238479, 44238614], [44240802, 44241243], [44274679, 44274772]]
NM_001137560 [[44238479, 44238614], [44240802, 44241243], [44243139, 44247182]] [[44238479, 44238614], [44240802, 44241243], [44243139, 44244264]]
Promoter
Chrom Start End Description
chr6 44237978 44237988 CAGE_peak_6_at_TMEM151B_5end
chr6 44238171 44238193 CAGE_peak_1_at_TMEM151B_5end
chr6 44238211 44238222 CAGE_peak_2_at_TMEM151B_5end
chr6 44238930 44238942 CAGE_peak_4_at_TMEM151B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I044125 44125704 44129031 2.2 [{'connected_gene': 'MRPL14', 'score': 570.09}, {'connected_gene': 'TMEM63B', 'score': 561.08}, {'connected_gene': 'POLH', 'score': 18.87}, {'connected_gene': 'ZNF318', 'score': 17.84}, {'connected_gene': 'XPO5', 'score': 13.85}, {'connected_gene': 'RPS2P29', 'score': 13.83}, {'connected_gene': 'POLR1C', 'score': 13.45}, {'connected_gene': 'GTPBP2', 'score': 13.31}, {'connected_gene': 'AARS2', 'score': 10.79}, {'connected_gene': 'NFKBIE', 'score': 10.52}, {'connected_gene': 'SLC35B2', 'score': 10.52}, {'connected_gene': 'ENSG00000271754', 'score': 10.49}, {'connected_gene': 'TMEM151B', 'score': 9.76}]
chr6 GH06I044094 44094004 44095812 0.93 [{'connected_gene': 'MRPL14', 'score': 31.26}, {'connected_gene': 'TMEM63B', 'score': 17.55}, {'connected_gene': 'CAPN11', 'score': 12.29}, {'connected_gene': 'VEGFA', 'score': 10.76}, {'connected_gene': 'AARS2', 'score': 10.75}, {'connected_gene': 'SLC29A1', 'score': 10.72}, {'connected_gene': 'HSP90AB1', 'score': 10.5}, {'connected_gene': 'SLC35B2', 'score': 10.38}, {'connected_gene': 'NFKBIE', 'score': 10.38}, {'connected_gene': 'TMEM151B', 'score': 10.29}, {'connected_gene': 'SPATS1', 'score': 9.7}, {'connected_gene': 'RPL29P16', 'score': 0.44}, {'connected_gene': 'PIR46189', 'score': 0.37}]
chr6 GH06I044340 44340040 44340219 0.62 [{'connected_gene': 'AARS2', 'score': 11.71}, {'connected_gene': 'TMEM151B', 'score': 11.68}, {'connected_gene': 'NFKBIE', 'score': 11.67}, {'connected_gene': 'SLC35B2', 'score': 11.27}, {'connected_gene': 'CDC5L', 'score': 11.2}, {'connected_gene': 'SPATS1', 'score': 0.77}, {'connected_gene': 'GC06M044325', 'score': 0.39}, {'connected_gene': 'ENSG00000272442', 'score': 0.2}]
chr6 GH06I044129 44129920 44130793 0.89 [{'connected_gene': 'AARS2', 'score': 10.79}, {'connected_gene': 'SLC35B2', 'score': 10.53}, {'connected_gene': 'NFKBIE', 'score': 10.52}, {'connected_gene': 'TMEM151B', 'score': 9.76}, {'connected_gene': 'TMEM63B', 'score': 6.86}, {'connected_gene': 'MRPL14', 'score': 0.77}, {'connected_gene': 'PIR60878', 'score': 0.34}]
chr6 GH06I044312 44312135 44313973 2.13 [{'connected_gene': 'AARS2', 'score': 562.2}, {'connected_gene': 'ZNF318', 'score': 45.54}, {'connected_gene': 'ABCC10', 'score': 33.62}, {'connected_gene': 'RPS2P29', 'score': 32.97}, {'connected_gene': 'POLH', 'score': 28.46}, {'connected_gene': 'GTPBP2', 'score': 27.24}, {'connected_gene': 'POLR1C', 'score': 26.23}, {'connected_gene': 'XPO5', 'score': 23.88}, {'connected_gene': 'RPL34P14', 'score': 19.6}, {'connected_gene': 'ENSG00000271754', 'score': 18.56}, {'connected_gene': 'MYMX', 'score': 12.67}, {'connected_gene': 'CDC5L', 'score': 11.16}, {'connected_gene': 'ENSG00000271970', 'score': 11.12}, {'connected_gene': 'YIPF3', 'score': 10.01}, {'connected_gene': 'TMEM151B', 'score': 9.51}, {'connected_gene': 'TCTE1', 'score': 0.37}, {'connected_gene': 'ENSG00000272442', 'score': 0.28}]
chr6 GH06I044232 44232665 44236361 1.32 [{'connected_gene': 'GTPBP2', 'score': 15.8}, {'connected_gene': 'RPS2P29', 'score': 12.62}, {'connected_gene': 'ABCC10', 'score': 11.99}, {'connected_gene': 'ZNF318', 'score': 11.79}, {'connected_gene': 'POLH', 'score': 11.48}, {'connected_gene': 'CAPN11', 'score': 11.41}, {'connected_gene': 'SLC35B2', 'score': 11.39}, {'connected_gene': 'NFKBIE', 'score': 11.34}, {'connected_gene': 'AARS2', 'score': 10.53}, {'connected_gene': 'TMEM151B', 'score': 10.5}, {'connected_gene': 'RPL34P14', 'score': 10.29}, {'connected_gene': 'YIPF3', 'score': 10.0}, {'connected_gene': 'TCTE1', 'score': 6.16}, {'connected_gene': 'SLC29A1', 'score': 5.85}, {'connected_gene': 'GC06P044236', 'score': 0.77}]
chr6 GH06I044338 44338624 44338793 0.8 [{'connected_gene': 'TMEM151B', 'score': 11.91}, {'connected_gene': 'NFKBIE', 'score': 11.9}, {'connected_gene': 'AARS2', 'score': 11.75}, {'connected_gene': 'SLC35B2', 'score': 11.55}, {'connected_gene': 'SPATS1', 'score': 0.77}, {'connected_gene': 'GC06M044325', 'score': 0.39}, {'connected_gene': 'ENSG00000272442', 'score': 0.2}]
chr6 GH06I044270 44270401 44270460 0.61 [{'connected_gene': 'TMEM151B', 'score': 550.77}, {'connected_gene': 'NFKBIE', 'score': 0.77}]
chr6 GH06I044268 44268124 44268333 0.81 [{'connected_gene': 'TMEM151B', 'score': 0.77}, {'connected_gene': 'NFKBIE', 'score': 0.77}]
chr6 GH06I044275 44275188 44277008 0.65 [{'connected_gene': 'TMEM151B', 'score': 7.01}, {'connected_gene': 'ENSG00000272442', 'score': 0.77}, {'connected_gene': 'TCTE1', 'score': 0.34}]
chr6 GH06I044272 44270600 44271001 0.84 [{'connected_gene': 'TMEM151B', 'score': 550.77}, {'connected_gene': 'ENSG00000272442', 'score': 0.77}]
chr6 GH06I044271 44271024 44271153 0.57 [{'connected_gene': 'TMEM151B', 'score': 550.77}, {'connected_gene': 'ENSG00000272442', 'score': 0.77}]
chr6 GH06I044255 44255004 44266883 2.66 [{'connected_gene': 'SLC35B2', 'score': 562.82}, {'connected_gene': 'ABCC10', 'score': 51.59}, {'connected_gene': 'RPL34P14', 'score': 48.25}, {'connected_gene': 'ZNF318', 'score': 46.06}, {'connected_gene': 'AARS2', 'score': 36.43}, {'connected_gene': 'NFKBIE', 'score': 34.66}, {'connected_gene': 'RPS2P29', 'score': 32.58}, {'connected_gene': 'POLH', 'score': 28.89}, {'connected_gene': 'GTPBP2', 'score': 24.34}, {'connected_gene': 'POLR1C', 'score': 24.26}, {'connected_gene': 'XPO5', 'score': 20.39}, {'connected_gene': 'ENSG00000271970', 'score': 17.12}, {'connected_gene': 'TMEM151B', 'score': 16.14}, {'connected_gene': 'SLC29A1', 'score': 11.67}, {'connected_gene': 'CAPN11', 'score': 10.86}, {'connected_gene': 'YIPF3', 'score': 10.0}, {'connected_gene': 'HSP90AB1', 'score': 6.41}, {'connected_gene': 'SLC22A7', 'score': 5.68}]
chr6 GH06I044283 44283529 44283845 0.24 [{'connected_gene': 'SLC35B2', 'score': 12.41}, {'connected_gene': 'AARS2', 'score': 11.35}, {'connected_gene': 'SPATS1', 'score': 11.06}, {'connected_gene': 'TMEM63B', 'score': 10.78}, {'connected_gene': 'MRPL14', 'score': 10.78}, {'connected_gene': 'TMEM151B', 'score': 8.7}, {'connected_gene': 'TCTE1', 'score': 1.74}, {'connected_gene': 'ENSG00000272442', 'score': 0.39}]
chr6 GH06I044230 44230792 44231049 0.2 [{'connected_gene': 'SLC35B2', 'score': 11.36}, {'connected_gene': 'CAPN11', 'score': 11.34}, {'connected_gene': 'NFKBIE', 'score': 11.34}, {'connected_gene': 'TMEM151B', 'score': 10.46}, {'connected_gene': 'GC06P044236', 'score': 0.44}, {'connected_gene': 'SLC29A1', 'score': 0.39}]
chr6 GH06I044104 44104198 44106047 0.78 [{'connected_gene': 'ZNF318', 'score': 49.74}, {'connected_gene': 'ENSG00000271970', 'score': 48.91}, {'connected_gene': 'ABCC10', 'score': 40.61}, {'connected_gene': 'AARS2', 'score': 39.17}, {'connected_gene': 'RPL34P14', 'score': 38.62}, {'connected_gene': 'POLR1C', 'score': 36.14}, {'connected_gene': 'SLC35B2', 'score': 28.94}, {'connected_gene': 'XPO5', 'score': 20.29}, {'connected_gene': 'MRPL14', 'score': 19.62}, {'connected_gene': 'CUL9', 'score': 13.0}, {'connected_gene': 'CAPN11', 'score': 12.15}, {'connected_gene': 'HSP90AB1', 'score': 10.97}, {'connected_gene': 'POLH-AS1', 'score': 10.9}, {'connected_gene': 'TMEM63B', 'score': 10.67}, {'connected_gene': 'TJAP1', 'score': 10.63}, {'connected_gene': 'NFKBIE', 'score': 10.56}, {'connected_gene': 'TMEM151B', 'score': 10.48}, {'connected_gene': 'SLC29A1', 'score': 10.42}, {'connected_gene': 'SPATS1', 'score': 10.03}, {'connected_gene': 'PIR46189', 'score': 0.44}, {'connected_gene': 'RPL29P16', 'score': 0.37}]
chr6 GH06I043713 43713773 43717449 1.38 [{'connected_gene': 'ZNF318', 'score': 28.55}, {'connected_gene': 'XPO5', 'score': 23.15}, {'connected_gene': 'POLR1C', 'score': 19.94}, {'connected_gene': 'CDC5L', 'score': 12.71}, {'connected_gene': 'POLH', 'score': 12.16}, {'connected_gene': 'MRPS18A', 'score': 11.74}, {'connected_gene': 'RSPH9', 'score': 11.16}, {'connected_gene': 'MAD2L1BP', 'score': 11.13}, {'connected_gene': 'GTPBP2', 'score': 11.13}, {'connected_gene': 'RPL34P14', 'score': 9.96}, {'connected_gene': 'NFKBIE', 'score': 9.78}, {'connected_gene': 'SLC35B2', 'score': 9.77}, {'connected_gene': 'TMEM151B', 'score': 9.71}, {'connected_gene': 'LOC100132242', 'score': 0.44}, {'connected_gene': 'ENSG00000236961', 'score': 0.34}, {'connected_gene': 'GC06P043362', 'score': 0.05}]
chr6 GH06I044342 44342084 44343200 1.1 [{'connected_gene': 'SPATS1', 'score': 556.86}, {'connected_gene': 'TMEM151B', 'score': 11.68}, {'connected_gene': 'NFKBIE', 'score': 11.67}, {'connected_gene': 'AARS2', 'score': 11.33}, {'connected_gene': 'SLC35B2', 'score': 10.99}, {'connected_gene': 'CDC5L', 'score': 5.49}, {'connected_gene': 'GC06M044325', 'score': 0.37}, {'connected_gene': 'ENSG00000272442', 'score': 0.2}]
chr6 GH06I044200 44200587 44204018 1.3 [{'connected_gene': 'SLC29A1', 'score': 38.34}, {'connected_gene': 'CAPN11', 'score': 21.84}, {'connected_gene': 'HSP90AB1', 'score': 11.5}, {'connected_gene': 'NFKBIE', 'score': 10.6}, {'connected_gene': 'TMEM151B', 'score': 10.59}, {'connected_gene': 'SLC35B2', 'score': 10.55}, {'connected_gene': 'MRPL14', 'score': 10.49}, {'connected_gene': 'TMEM63B', 'score': 10.48}, {'connected_gene': 'MYMX', 'score': 5.27}, {'connected_gene': 'RN7SL811P', 'score': 0.44}]
chr6 GH06I044292 44292214 44292273 0.5 [{'connected_gene': 'TCTE1', 'score': 550.44}, {'connected_gene': 'AARS2', 'score': 12.01}, {'connected_gene': 'NFKBIE', 'score': 11.51}, {'connected_gene': 'SLC35B2', 'score': 11.49}, {'connected_gene': 'SPATS1', 'score': 10.8}, {'connected_gene': 'TMEM63B', 'score': 10.18}, {'connected_gene': 'MRPL14', 'score': 10.17}, {'connected_gene': 'SLC29A1', 'score': 10.02}, {'connected_gene': 'ENSG00000272442', 'score': 0.37}, {'connected_gene': 'TMEM151B', 'score': 0.34}]
chr6 GH06I044304 44304844 44304993 0.76 [{'connected_gene': 'TCTE1', 'score': 0.44}, {'connected_gene': 'AARS2', 'score': 0.44}, {'connected_gene': 'ENSG00000272442', 'score': 0.29}, {'connected_gene': 'TMEM151B', 'score': 0.29}]
chr6 GH06I044296 44296970 44298810 1.3 [{'connected_gene': 'TCTE1', 'score': 558.72}, {'connected_gene': 'POLR1C', 'score': 14.63}, {'connected_gene': 'RPS2P29', 'score': 10.13}, {'connected_gene': 'ENSG00000271754', 'score': 9.78}, {'connected_gene': 'TMEM151B', 'score': 6.93}, {'connected_gene': 'AARS2', 'score': 0.37}, {'connected_gene': 'ENSG00000272442', 'score': 0.34}]
chr6 GH06I044096 44096824 44096973 0.85 [{'connected_gene': 'CAPN11', 'score': 12.29}, {'connected_gene': 'TMEM63B', 'score': 11.8}, {'connected_gene': 'MRPL14', 'score': 11.78}, {'connected_gene': 'VEGFA', 'score': 10.76}, {'connected_gene': 'AARS2', 'score': 10.75}, {'connected_gene': 'SLC29A1', 'score': 10.72}, {'connected_gene': 'HSP90AB1', 'score': 10.5}, {'connected_gene': 'NFKBIE', 'score': 10.38}, {'connected_gene': 'SLC35B2', 'score': 10.38}, {'connected_gene': 'TMEM151B', 'score': 10.29}, {'connected_gene': 'SPATS1', 'score': 9.7}, {'connected_gene': 'RPL29P16', 'score': 0.44}, {'connected_gene': 'PIR46189', 'score': 0.39}]
chr6 GH06I044206 44206801 44207000 0.76 [{'connected_gene': 'CAPN11', 'score': 11.73}, {'connected_gene': 'HSP90AB1', 'score': 11.51}, {'connected_gene': 'NFKBIE', 'score': 10.61}, {'connected_gene': 'TMEM151B', 'score': 10.6}, {'connected_gene': 'SLC35B2', 'score': 10.56}, {'connected_gene': 'MRPL14', 'score': 10.48}, {'connected_gene': 'TMEM63B', 'score': 10.47}, {'connected_gene': 'RN7SL811P', 'score': 0.77}, {'connected_gene': 'MYMX', 'score': 0.39}]
chr6 GH06I044204 44204124 44204273 0.82 [{'connected_gene': 'CAPN11', 'score': 11.73}, {'connected_gene': 'HSP90AB1', 'score': 11.5}, {'connected_gene': 'NFKBIE', 'score': 10.6}, {'connected_gene': 'TMEM151B', 'score': 10.59}, {'connected_gene': 'SLC35B2', 'score': 10.56}, {'connected_gene': 'TMEM63B', 'score': 10.48}, {'connected_gene': 'MRPL14', 'score': 10.48}, {'connected_gene': 'RN7SL811P', 'score': 0.44}, {'connected_gene': 'MYMX', 'score': 0.39}]

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